GRHL2 grainyhead like transcription factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GRHL2provided by HGNC
Official Full Name: grainyhead like transcription factor 2provided by HGNC
Primary source: HGNC:HGNC:2799
See related: Ensembl:ENSG00000083307 MIM:608576
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BOM; ECTDS; PPCD4; DFNA28; TFCP2L3
Summary: The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]
Expression: Broad expression in skin (RPKM 14.0), prostate (RPKM 13.5) and 14 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q22.3

Exon count:: 18

Annotation release	Status	Assembly	Chr	Location
109.20201120	current	GRCh38.p13 (GCF_000001405.39)	8	NC_000008.11 (101492439..101678104)
105	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (102504668..102681954)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exposure of human oral keratinocytes to Porphyromonas gingivalis or LPS led to rapid loss of endogenous GRHL2 and the junction proteins
Title: <i>Porphyromonas gingivalis</i> Impairs Oral Epithelial Barrier through Targeting GRHL2.
Rs3735715 polymorphism in GRHL2 gene may influence the susceptibility of noise-induced hearing loss
Title: Polymorphism in GRHL2 gene may contribute to noise-induced hearing loss susceptibility: a meta-analysis.
demonstrate that epithelial genes are subject to epigenetic control during intermediate phases of epithelial-mesenchymal transition/MET involving GRHL2
Title: The role of GRHL2 and epigenetic remodeling in epithelial-mesenchymal plasticity in ovarian cancer cells.
Study found Grhl2 highly expressed in placentas of patients with pre-eclampsia. Furthermore, upregulation of Grhl2 by circ-TNRC18-induced inhibition of miR-762 led to trophoblast cell migration and epithelial-mesenchymal transition.
Title: CircTRNC18 inhibits trophoblast cell migration and epithelial-mesenchymal transition by regulating miR-762/Grhl2 pathway in pre-eclampsia.
revealed significant interethnic differences in allele polymorphisms of NAT2, GRM7 and GRHL2 exhibit quite marked ethnic differences in Roma populations
Title: Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations.
These findings suggest that alterations in the ZEB1-OVOL2-GRHL2 axis (caused by posterior polymorphous corneal dystrophy-associated mutations) lead to changes in corneal endothelial cell state and molecular pathways, including the aberrant activation of the Wnt signaling pathway.
Title: Alterations in GRHL2-OVOL2-ZEB1 axis and aberrant activation of Wnt signaling lead to altered gene transcription in posterior polymorphous corneal dystrophy.
Studies suggest that grainyhead like transcription factor 2 (GRHL2) may directly affect steroid receptor transcriptional activity [Review].
Title: Grainyhead-like Protein 2: The Emerging Role in Hormone-Dependent Cancers and Epigenetics.
Unlike ER, pS118-ER sites were enriched in GRHL2 DNA binding motifs, and estrogen treatment increased GRHL2 recruitment to sites occupied by pS118-ER.
Title: The Phosphorylated Estrogen Receptor α (ER) Cistrome Identifies a Subset of Active Enhancers Enriched for Direct ER-DNA Binding and the Transcription Factor GRHL2.
recruited to a subset of estrogen receptor binding sites and regulates transcriptional output
Title: VULCAN integrates ChIP-seq with patient-derived co-expression networks to identify GRHL2 as a key co-regulator of ERa at enhancers in breast cancer.
The grainyhead-like-2 (GRHL2) genetic variants were reported in age-related hearing impairment (ARHI) susceptibility in several case-control studies
Title: Association of polymorphisms in grainyhead-like-2 gene with the susceptibility to age-related hearing loss: A systematic review and meta-analysis.

Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
A genome-wide association study (GWAS) for bronchopulmonary dysplasia. GeneReviews: Not available
Corneal dystrophy, posterior polymorphous 4 MedGen: C4747961 OMIM: 618031 GeneReviews: Not available	Compare labs
Deafness, autosomal dominant 28 MedGen: C1837640 OMIM: 608641 GeneReviews: Hereditary Hearing Loss and Deafness Overview	Compare labs
Ectodermal dysplasia/short stature syndrome MedGen: C4014987 OMIM: 616029 GeneReviews: Not available	Compare labs
Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH36161 (e-PCR)
- UniSTS:65903

RH123420 (e-PCR)
- UniSTS:135795

WI-11745 (e-PCR)
- UniSTS:82820

RH65468 (e-PCR)
- UniSTS:46301

Homology

Homologs of the GRHL2 gene: The GRHL2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 331 organisms have orthologs with human gene GRHL2
Orthologs

Clone Names

FLJ11172, FLJ13782, MGC149294, MGC149295

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info	PubMed
DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
chromatin DNA binding	IDA Inferred from Direct Assay more info	PubMed
intronic transcription regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed
sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
anterior neural tube closure	IEA Inferred from Electronic Annotation more info
bicellular tight junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
brain development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
camera-type eye development	IEA Inferred from Electronic Annotation more info
cardiac ventricle morphogenesis	IEA Inferred from Electronic Annotation more info
cell adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
cell junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
cell population proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
embryonic cranial skeleton morphogenesis	IEA Inferred from Electronic Annotation more info
embryonic digit morphogenesis	IEA Inferred from Electronic Annotation more info
epidermis development	IDA Inferred from Direct Assay more info	PubMed
epithelial cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
epithelial cell morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
epithelial cell morphogenesis involved in placental branching	IEA Inferred from Electronic Annotation more info
epithelium migration	ISS Inferred from Sequence or Structural Similarity more info
face development	IEA Inferred from Electronic Annotation more info
lung epithelial cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
lung lobe morphogenesis	IEA Inferred from Electronic Annotation more info
multicellular organism growth	IEA Inferred from Electronic Annotation more info
negative regulation of keratinocyte differentiation	IDA Inferred from Direct Assay more info	PubMed
neural tube closure	ISS Inferred from Sequence or Structural Similarity more info
neural tube development	IBA Inferred from Biological aspect of Ancestor more info	PubMed
positive regulation of telomerase activity	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info
regulation of DNA methylation	IDA Inferred from Direct Assay more info	PubMed
regulation of DNA methylation	IMP Inferred from Mutant Phenotype more info	PubMed
regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info	PubMed

Component	Evidence Code	Pubs
cell-cell junction	IDA Inferred from Direct Assay more info	PubMed
chromatin	ISA Inferred from Sequence Alignment more info
membrane	IEA Inferred from Electronic Annotation more info
nucleoplasm	IDA Inferred from Direct Assay more info
nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed
nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: grainyhead-like protein 2 homolog

Names: brother of mammalian grainyhead; grainyhead-like 2; transcription factor CP2-like 3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011971.2 RefSeqGene

Range

5000..182287

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001330593.2 → NP_001317522.1 grainyhead-like protein 2 homolog isoform 2

Status: REVIEWED

Source sequence(s)

AK296817, AP000426, AP001207, BC069633, BX117477, DN916458

Consensus CDS

CCDS83312.1

UniProtKB/Swiss-Prot

Q6ISB3

UniProtKB/TrEMBL

B4DL28

Related

ENSP00000379260.1, ENST00000395927.1

Conserved Domains (1) summary

pfam04516
Location:213 → 422

CP2; CP2 transcription factor
NM_024915.4 → NP_079191.2 grainyhead-like protein 2 homolog isoform 1

See identical proteins and their annotated locations for NP_079191.2

Status: REVIEWED

Source sequence(s)

AP000426, AP001207, BC069638

Consensus CDS

CCDS34931.1

UniProtKB/Swiss-Prot

Q6ISB3

Related

ENSP00000495564.1, ENST00000646743.1

Conserved Domains (1) summary

pfam04516
Location:229 → 438

CP2; CP2 transcription factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p13 Primary Assembly

Range

101492439..101678104

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011517307.3 → XP_011515609.1 grainyhead-like protein 2 homolog isoform X2

Conserved Domains (1) summary

pfam04516
Location:229 → 438

CP2; CP2 transcription factor
XM_011517306.3 → XP_011515608.1 grainyhead-like protein 2 homolog isoform X1

See identical proteins and their annotated locations for XP_011515608.1

UniProtKB/Swiss-Prot

Q6ISB3

Conserved Domains (1) summary

pfam04516
Location:213 → 422

CP2; CP2 transcription factor
XM_024447286.1 → XP_024303054.1 grainyhead-like protein 2 homolog isoform X3